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Gene Symbol |
NUCB2 |
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Aliases |
HEL-S-109, NEFA |
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Entrez Gene ID |
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Gene Name |
Nucleobindin 2 |
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Chromosomal Location |
11p15.1 |
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HGNC ID |
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Summary |
This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
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e!Ensembl
Gene |
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Transcript |
ENST00000528644, ENST00000646648, ENST00000530527, ENST00000526120, ENST00000533773, ENST00000531172, ENST00000533738, ENST00000323688, ENST00000529010, ENST00000530964, ENST00000529313, ENST00000533926, ENST00000527580, ENST00000527735, ENST00000622082, ENST00000458064 |
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Protein |
ENSP00000431136, ENSP00000495210, ENSP00000435160, ENSP00000436215, ENSP00000433542, ENSP00000435968, ENSP00000435558, ENSP00000320168, ENSP00000436455, ENSP00000431328, ENSP00000431334, ENSP00000433194, ENSP00000435787, ENSP00000432741, ENSP00000481959, ENSP00000408702
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SNPs
SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
rs757081 |
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26369257 | |
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Protein Information |
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Protein Name |
Nucleobindin-2, DNA-binding protein NEFA, epididymis secretory protein Li 109, gastric cancer antigen Zg4, nesfatin 1, novel DNA binding/EF-hand/leucine zipper protein, nucleobinding 2, prepronesfatin |
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Function |
Calcium-binding protein which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein (G-protein) alpha subunit GNAI3 (By similarity). .; [Nesfatin-1]: Anorexigenic peptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis, acting in a leptin-independent manner. May also exert hypertensive roles and modulate blood pressure through directly acting on peripheral arterial resistance. |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF13499 |
EF-hand_7 |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000435412 |
Q15418 |
Q15418 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
PCOS |
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Neoplasms |
Prostate cancer |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, chronic oligo-ovulation or anovulation, clinical or biochemical hyperandrogenism, polycystic ovaries, insulin resistance (IR), central obesity, type 2 diabetes mellitus (DM), dyslipidemia, and cardiovascular diseases |
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European Society for Human Reproduction and Embryology and the American Society for Reproductive Medicine (ESHRE/ASRM) criteria |
Related
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60 PCOS women and 26 control |
C allele of NUCB2 gene polymorphism related with lower nesfatin-1 levels may play important role in pathogenesis of PCOS. |
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